Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Improved survival with vemurafenib in melanoma with BRAF V600E mutation. 21639808

2011
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Incidence of the V600K mutation among melanoma patients with BRAF mutations, and potential therapeutic response to the specific BRAF inhibitor PLX4032. 20630094

2010
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR Inhibition of mutated, activated BRAF in metastatic melanoma. 20818844

2010
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Inhibition of mutated, activated BRAF in metastatic melanoma. 20818844

2010
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR RG7204 (PLX4032), a selective BRAFV600E inhibitor, displays potent antitumor activity in preclinical melanoma models. 20551065

2010
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR Determinants of BRAF mutations in primary melanomas. 14679157

2003
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Determinants of BRAF mutations in primary melanomas. 14679157

2003
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002